E Marton1, L Bonaldi, S Busato, P Longatti. 1. Neurosurgery Department, Regional Hospital, Padova University, Treviso, Italy. emarton@ulss.tv.it
Abstract
INTRODUCTION: Werner Syndrome, or adult progeria, is a rare autosomal recessive disorder caused by a mutation in the Werner Syndrome Gene belonging to the family of RecQ helicase. Malignant mesenchymal tumours and atherosclerosis are typical causes of death. Intracranial meningiomas are frequently described in these patients. CLINICAL PRESENTATION: We present the case of a 46-year-old man with Werner Syndrome and a convexity meningioma. The patient had a 2-year history of paresthesia and paresis in his right leg, which had worsened in recent months. He underwent surgery with Simpson grade II removal, with improvement of the slight paresis and no other neurological defects. The patient then underwent radiotherapy (60 Gy). Histological examination revealed an atypical meningioma. Cytogenetic analysis showed a hypodiploid clone with a complex karyotype characterized by monosomy 22 and deletion 1p. After 3 years' follow-up no relapses had occurred. CONCLUSION: 1p deletion correlates with meningioma progression and in this case correlates with histological examination. The chromosomal instability underlying Werner Syndrome could have fostered the complex karyotype.
INTRODUCTION:Werner Syndrome, or adult progeria, is a rare autosomal recessive disorder caused by a mutation in the Werner Syndrome Gene belonging to the family of RecQ helicase. Malignant mesenchymal tumours and atherosclerosis are typical causes of death. Intracranial meningiomas are frequently described in these patients. CLINICAL PRESENTATION: We present the case of a 46-year-old man with Werner Syndrome and a convexity meningioma. The patient had a 2-year history of paresthesia and paresis in his right leg, which had worsened in recent months. He underwent surgery with Simpson grade II removal, with improvement of the slight paresis and no other neurological defects. The patient then underwent radiotherapy (60 Gy). Histological examination revealed an atypical meningioma. Cytogenetic analysis showed a hypodiploid clone with a complex karyotype characterized by monosomy 22 and deletion 1p. After 3 years' follow-up no relapses had occurred. CONCLUSION: 1p deletion correlates with meningioma progression and in this case correlates with histological examination. The chromosomal instability underlying Werner Syndrome could have fostered the complex karyotype.
Authors: A Postiglione; A Soricelli; E M Covelli; N Iazzetta; A Ruocco; G Milan; L Santoro; B Alfano; A Brunetti Journal: Neurobiol Aging Date: 1996 May-Jun Impact factor: 4.673
Authors: Sandy Chang; Asha S Multani; Noelia G Cabrera; Maria L Naylor; Purnima Laud; David Lombard; Sen Pathak; Leonard Guarente; Ronald A DePinho Journal: Nat Genet Date: 2004-07-04 Impact factor: 38.330